List of variants in gene BRCA1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.*750A>G	rs138782023	0.00430
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)	rs55688530	0.00301
NM_007294.4(BRCA1):c.81-3625del	rs373185847	0.00213
NM_007294.4(BRCA1):c.5277+48_5277+59dup	rs572766355	0.00187
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=)	rs80356851	0.00183
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met)	rs56128296	0.00158
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)	rs147448807	0.00150
NM_007294.4(BRCA1):c.5277+78G>A	rs80358107	0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)	rs4986854	0.00098
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)	rs1800740	0.00066
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)	rs1800063	0.00065
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)	rs28897693	0.00064
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)	rs28897677	0.00060
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)	rs28897675	0.00026
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile)	rs80357090	0.00021
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)	rs80357087	0.00019
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=)	rs41286292	0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)	rs62625298	0.00011
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)	rs372017932	0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys)	rs28897673	0.00009
NM_007294.4(BRCA1):c.987T>C (p.Asn329=)	rs774849810	0.00008
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)	rs56039126	0.00007
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)	rs587782770	0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His)	rs55746541	0.00006
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln)	rs80357337	0.00006
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile)	rs55678461	0.00005
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly)	rs80357501	0.00005
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)	rs56272539	0.00004
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu)	rs41286290	0.00002
NM_007294.4(BRCA1):c.1998A>G (p.Leu666=)	rs864622452	0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)	rs80357365	0.00001
NM_007294.4(BRCA1):c.4914A>G (p.Glu1638=)	rs786201216	0.00001
NM_007294.4(BRCA1):c.5074+14C>T	rs370299792	0.00001
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=)	rs730881456	0.00001
NM_007294.4(BRCA1):c.564A>G (p.Glu188=)	rs768065826	0.00001
NM_007294.4(BRCA1):c.10T>C (p.Ser4Pro)	rs876658707
NM_007294.4(BRCA1):c.1534C>G (p.Leu512Val)	rs41286294
NM_007294.4(BRCA1):c.1761A>C (p.Ile587=)	rs1057523389
NM_007294.4(BRCA1):c.1863T>C (p.His621=)	rs786201460
NM_007294.4(BRCA1):c.2022T>G (p.Pro674=)	rs771519405
NM_007294.4(BRCA1):c.2472T>C (p.Asn824=)	rs786201415
NM_007294.4(BRCA1):c.3153T>C (p.Thr1051=)	rs1057521053
NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala)	rs80357184
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)	rs41293455
NM_007294.4(BRCA1):c.4358-2739G>A	rs1006230499
NM_007294.4(BRCA1):c.439T>C (p.Leu147=)	rs794727800
NM_007294.4(BRCA1):c.5333-869A>G
NM_007294.4(BRCA1):c.547+14del	rs273902771

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.